Variant #0000638671 (NC_000016.9:g.70302226T>C, AARS(NM_001605.2):c.1019A>G)

Individual ID 00281786
Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.70302226T>C
DNA change (hg38) g.70268323T>C
Published as -
ISCN -
DB-ID AARS_000018 See all 3 reported entries
Variant remarks -
Reference PubMed: Sevy 2016
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00013 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 +?/. - c.1019A>G r.(?) p.(Asn340Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282932 DNA SEQ;SEQ-NG - 298 gene panel neuromuscular disease AARS 1 Johan den Dunnen